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Authors
Vedovato-dos-Santos, J. Heather https://orcid.org/0000-0002-0826-1745
Tooze, Rebecca S.
Sithambaram, Sivagamy
McCann, Emma
Alanay, Yasemin
Dogan, Ozlem A.
Kilercik, Meltem
Bingol, Aysen
Ozek, Memet M.
Johnson, David
Nellaker, Christoffer
Wilkie, Andrew O. M. https://orcid.org/0000-0002-2972-5481
Twigg, Stephen R. F. https://orcid.org/0000-0001-5024-049X
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Article History
Received: 5 October 2024
Revised: 14 January 2025
Accepted: 19 February 2025
First Online: 3 March 2025
Competing interests
: The authors declare no competing interests.
: The clinical protocol for the 100,000 Genomes Project was approved by East of England—Cambridge South Research Ethics Committee (REC) (14/ EE/1112). For patients 1, 3 and 4, clinical and experimental studies were performed under the protocol of the Genetic Basis of Craniofacial Malformations study (London – Riverside REC (09/H0706/20). For patient 2, genetic analyses and imaging procedures were performed as part of standard diagnostic protocols; as such, no further ethical approval was sought. Written informed consent was obtained from the parents of all affected individuals authorizing the use of images, clinical information, and biological samples, according to the ethics protocols of the respective institutions.
